Linked Data
ClinVar Variation Id:
324287
ClinVar RCV Id:
RCV000341634
dbSNP Id:
rs8077553
gnomAD v2:
17-59756657-A-G
gnomAD v3:
17-61679296-A-G
gnomAD v4:
17-61679296-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61679296A>G , CM000679.2:g.61679296A>G | GRCh38 |
| NC_000017.10:g.59756657A>G , CM000679.1:g.59756657A>G | GRCh37 |
| NC_000017.9:g.57111439A>G | NCBI36 |
| NG_007409.2:g.189264T>C , LRG_300:g.189264T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682755.1:c.*4000T>C | ENSP00000507660.1:n.*4000T>C | |
| ENST00000259008.7:c.*4000T>C MANE Select | ENSP00000259008.2:n.*4000T>C | |
| NM_032043.2:c.*4000T>C , LRG_300t1:c.*4000T>C | NP_114432.2:n.*4000T>C | |
| NM_032043.3:c.*4000T>C MANE Select | NP_114432.2:n.*4000T>C |